Canonical Allele Identifier: CA222882730

Gene: SDHAF2

Linked Data

• dbSNP Id: rs1042708462
• gnomAD v3: 11-61446228-A-C
• gnomAD v4: 11-61446228-A-C
• MyVariant Identifiers: chr11:g.61213700A>C (hg19) ; chr11:g.61446228A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446228A>C , CM000673.2:g.61446228A>C	GRCh38
NC_000011.9:g.61213700A>C , CM000673.1:g.61213700A>C	GRCh37
NC_000011.8:g.60970276A>C	NCBI36
NG_023393.1:g.21104A>C , LRG_519:g.21104A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.*157A>C MANE Select	ENSP00000301761.3:n.*157A>C
ENST00000301761.6:c.*157A>C	ENSP00000301761.2:n.*157A>C
ENST00000536670.5:n.396+8115A>C
ENST00000538594.5:c.370+8115A>C	ENSP00000440939.1:n.370+8115A>C
ENST00000541135.5:c.377+8108A>C	ENSP00000443130.1:n.377+8108A>C
ENST00000542074.1:c.*237A>C	ENSP00000469670.1:n.*237A>C
ENST00000542794.5:c.*660A>C	ENSP00000439983.1:n.*660A>C
ENST00000543044.2:c.*157A>C	ENSP00000440219.1:n.*157A>C
ENST00000544025.5:n.465+8115A>C
ENST00000544801.5:c.370+8115A>C	ENSP00000442581.1:n.370+8115A>C
ENST00000544880.1:n.374+8115A>C
NM_017841.2:c.*157A>C , LRG_519t1:c.*157A>C	NP_060311.1:n.*157A>C
NM_017841.4:c.*157A>C MANE Select	NP_060311.1:n.*157A>C